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101.
Seema Kapoor Sharmila Banerjee Mukherjee Daraius Shroff Ritu Arora Debadatta Mukhopadhyay Apurba Ghosh Maya Mukhopadhyay J. P. Narayan P. Garg G. Pareek S. Narayan Seema Thakur Sarah E. Flanagan Sian Ellard I. C. Verma Rakesh Mondal Madhumita Nandi Astha Tiwari Swati Chakravorti 《Indian pediatrics》2011,48(9):727-736
102.
103.
104.
105.
106.
Abdelhadi M. Habeb Sarah E. Flanagan Mohamed A. Zulali Mohamed A. Abdullah Renata Pomahačová Veselin Boyadzhiev Lesby E. Colindres Guillermo V. Godoy Thiruvengadam Vasanthi Ramlah Al Saif Aria Setoodeh Amirreza Haghighi Alireza Haghighi Yomna Shaalan International Neonatal Diabetes Consortium Andrew T. Hattersley Sian Ellard Elisa De Franco 《Diabetologia》2018,61(5):1027-1036
Aims/hypothesis
Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B1) in a cohort of individuals with TRMA-related diabetes.Methods
We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or next generation sequencing. Clinical details were collected through a follow-up questionnaire.Results
We identified 24 different mutations, of which nine are novel. The onset of the first TRMA symptom ranged from birth to 4 years (median 6 months [interquartile range, IQR 3–24]) and median age at diabetes onset was 10 months (IQR 5–27). At presentation, three individuals had isolated diabetes and 12 had asymptomatic hyperglycaemia. Follow-up data was available for 15 individuals treated with thiamine for a median 4.7 years (IQR 3–10). Four patients were able to stop insulin and seven achieved better glycaemic control on lower insulin doses. These 11 patients were significantly younger at diabetes diagnosis (p?=?0.042), at genetic testing (p?=?0.01) and when starting thiamine (p?=?0.007) compared with the rest of the cohort. All patients treated with thiamine became transfusion-independent and adolescents achieved normal puberty. There were no additional benefits of thiamine doses >150 mg/day and no reported side effects up to 300 mg/day.Conclusions/interpretation
In TRMA syndrome, diabetes can be asymptomatic and present before the appearance of other features. Prompt recognition is essential as early treatment with thiamine can result in improved glycaemic control, with some individuals becoming insulin-independent.Data availability
SLC19A2 mutation details have been deposited in the Decipher database (https://decipher.sanger.ac.uk/).107.
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young 总被引:2,自引:2,他引:2
Bulman MP Harries LW Hansen T Shepherd M Kelly WF Hattersley AT Ellard S 《Diabetologia》2002,45(10):1463-1467
108.
M. P. Bulman M. J. Dronsfield T. Frayling M. Appleton S. C. Bain S. Ellard A. T. Hattersley 《Diabetologia》1997,40(7):859-862
Summary Maturity-onset diabetes of the young (MODY) is a monogenic subgroup of non-insulin dependent diabetes mellitus (NIDDM) characterised
by an early age of onset (< 25 years) and an autosomal dominant mode of inheritance. MODY is genetically heterogeneous with
three different genes identified to date; hepatocyte nuclear factor 4 alpha (HNF-4α) [MODY1], glucokinase [MODY2] and hepatocyte
nuclear factor 1 alpha (HNF-1α) [MODY3]. A nonsense mutation in the HNF-4α gene has recently been shown to cause MODY in a
single large North American pedigree (RW). We screened a large UK Caucasian MODY family which showed weak evidence of linkage
to the MODY1 locus on chromosome 20q (lod score for ADA 0.68 at θ = 0) for mutations in the coding region of the HNF-4α gene by direct sequencing. A missense mutation resulting in the substitution
of glutamine for glutamic acid was identified in exon 7 (E276Q). The mutation was present in all of the diabetic members of
the pedigree plus two unaffected subjects and was not detected in 75 normal control subjects or 95 UK Caucasian subjects with
late-onset NIDDM. This is the first missense mutation to be described in the HNF-4α gene. [Diabetologia (1997) 40: 859–862]
Received: 7 March 1997 and in revised form: 16 April 1997 相似文献
109.
110.
Yasemin Denkboy
ngen Erdal Eren
zgecan Demirba Elif Sobu Sian Ellard Elisa De Franco
mer Tarm 《Journal of clinical research in pediatric endocrinology》2021,13(1):80
Objective:Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center.Methods:A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated.Results:The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin.Conclusion:Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients. 相似文献